Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Mid-life social participation in people with intellectual disability: The 1958 British birth cohort study.

BACKGROUND: Low social participation is a potentially modifiable risk factor for cognitive deterioration in the general population and related to lower quality of life (QoL). We aimed to find out whether social participation is linked to cognitive deterioration and QoL for people with borderline intellectual functioning and mild intellectual disability. METHOD: We used data from the National Child Development Study, consisting of people born during one week in 1958, to compare midlife social participation in people with mild intellectual disability, borderline intellectual functioning, and without intellectual impairment. We defined social participation as 1. confiding/emotional support from the closest person and social network contact frequency at age 44, and 2. confiding relationships with anyone at age 50. We then assessed the extent to which social participation mediated the association between childhood intellectual functioning and cognition and QoL at age 50. RESULTS: 14,094 participants completed cognitive tests at age 11. People with borderline intellectual functioning and mild intellectual disability had more social contact with relatives and confiding/emotional support from their closest person, but fewer social contacts with friends and confiding relationships with anyone than those without intellectual disability. Having a confiding relationship partially mediated the association at age 50 between IQ and cognition (6.4%) and QoL (27.4%) for people with borderline intellectual functioning. CONCLUSION: We found adults with intellectual disability have positive family relationships but fewer other relationships. Even at the age of 50, confiding relationships may protect cognition for people with borderline intellectual functioning and are important for QoL.

Challenging behaviour and epilepsy in patients with intellectual disability: frequency and mutual association.

Comorbid epilepsy and challenging behaviours is quiet common in patients with ID (intellectual disability). This study aims to determine the frequency and mutual association between epilepsy and challenging behaviours. In this cross-sectional analytical study, 252 patients were enrolled through convenient sampling technique. Comorbid epilepsy and CB (challenging behaviour) were seen in 111 (44.6%) and 116 (46.6%) patients, respectively. Epilepsy and severity of intellectual disability (ID) are statistically and significantly associated with challenging behaviour. This study concluded that comorbid epilepsy is more common among people with ID as compared to the general population. The clinical variables, i.e. comorbid epilepsy and severity of ID have statistically significant association with the CB.

Program logic of a service collaboration to support parents with intellectual disability.

BACKGROUND: This article describes the Steps to Confident Parenting (SCP) program, developed by an Australian family service consortium. The SCP integrates home-based and case-management services to enhance the skills of parents with a diagnosed or suspected intellectual disability/cognitive impairment and to prevent child protection interventions. METHOD: 'Program explication' methodology documented the components/activities, and underpinning evidence for this practitioner designed service through interviews with nine agency staff. A literature review evaluated evidence for the implicit program benefit theory. RESULTS AND CONCLUSION: The SCP comprised five logically consistent components-Targeted Referral, Assessments, Initial Consultation, Program Delivery, Closure and Follow-up. Components generally had 'some' supportive evidence, however there was a 'lack of' evidence for Closure and Follow-up. In the context of a partnership seeking to build the evidence for the SCP, it was recommended that a protocol for a randomised trial evaluation with longer term follow-up be drafted by the consortia.

School-based targeted prevention for children with mild intellectual disabilities or borderline intellectual functioning and behaviour problems: A pilot implementation study.

BACKGROUND: We examined the implementation and potential effectiveness of a school-based targeted prevention programme addressing behaviour problems, adapted for children with mild intellectual disabilities or borderline intellectual functioning. METHOD: Thirteen children participated. The intervention was implemented in schools. We examined intervention dosage, reach, responsiveness, satisfaction, and comprehension, using questionnaires completed by children and trainers. We assessed child- and teacher-reported behaviour problems before and after the intervention. RESULTS: Trainers selected both children who did and did not meet the intervention eligibility criteria, suggesting problems in intervention reach. Intervention dosage, responsiveness, satisfaction, and comprehension were satisfactory. There were group-level behaviour problem decreases (i.e., Cohen's d). Individual-level behaviour problem changes (i.e., Reliable Change Indices) showed large heterogeneity and little reliable change. CONCLUSIONS: The results provide initial evidence that the intervention has potential for successful implementation in schools, but the current evidence for intervention effectiveness is inconclusive.

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.

BACKGROUND: KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impairment (e.g., minimally verbal) are common features of the disorder, with late-truncating variants associated with a more severe form of intellectual disability. However, much of the cognitive phenotype remains elusive given the dearth of research. PARTICIPANTS AND METHODS: This study examined non-verbal and social skills of 15 individuals with molecularly-confirmed diagnoses of KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed select subtests from the DAS-II, the NEPSY-II, and the Beery Buktenica Developmental Test of Visual Motor Integration 6th Edition, and their caregivers completed an assortment of behavior rating inventories. RESULTS: Findings suggest global cognitive impairment with nonverbal cognition scores similar to those for receptive language. Autism-related features, particularly restricted interests and repetitive behaviors, and broad adaptive deficits were common in our sample juxtaposed with a relatively strong social drive and low frequency of internalizing and externalizing behavioral problems. A general trend of lower performance scores on nonverbal and receptive language measures was observed among those with protein-truncating variants vs. missense variants; however, no effect was observed on caregiver rating inventories of daily behaviors. Late and early truncating variants yielded comparable neuropsychological profiles. CONCLUSIONS: Overall, study results show the cognitive phenotype of KAT6A syndrome includes equally impaired nonverbal cognition and receptive language functioning, paired with relatively intact social drive and strengths in behavior regulation. Emergent genotype-phenotype correlations suggest cognition may be more affected in protein-truncating than missense mutations although similar neurobehavioral profiles were observed.

Adult Day Services for People With Intellectual and Developmental Disabilities: A Scoping Review.

BACKGROUND: Adult day services (ADS) are therapeutic, social, and health-related activities that keep people in their homes, rather than institutional settings. While there is a growing body of literature on ADS for older adults, there is far less information available about ADS for younger adults with intellectual and/or developmental disabilities (IDDs). METHOD: Researchers conducted a scoping review of 6 databases (892 total articles). RESULTS: After applying inclusion and exclusion criteria, 74 full articles were reviewed, with 10 articles meeting study requirements. The research team found the literature is limited to simple descriptive reports or interventions that use ADS as a platform. CONCLUSIONS: Simply put, we know very little about the services provided to younger adults with IDD in ADS. Implications for future research are discussed, including the need to catalog the services offered in ADS for younger adults with IDD and to evaluate their impact on participant well-being.

Strategies for Accessible Breast Screening for People With Intellectual Disability.

INTRODUCTION: People with intellectual disability are less likely to participate in breast screening than people without intellectual disability. They experience a range of barriers to accessing breast screening, however, there is no consensus on strategies to overcome these barriers. Our objective was to reach consensus on the strategies required for accessible breast screening for people with intellectual disability. METHODS: Fourteen experts participated in a modified on-line Delphi that used Levesque's model of health care access as the theoretical framework. At the end of each round descriptive and thematic analyses were completed. Data was then triangulated to determine if consensus was reached. RESULTS: After 3 rounds, 9 strategies were modified, 24 strategies were added and consensus was reached for 52 strategies across the 5 dimensions of access. Key areas of action related to (i) decision making and consent, (ii) accessible information, (iii) engagement of peer mentors, (iv) service navigators, and (v) equipping key stakeholders. CONCLUSIONS: The resulting strategies are the first to articulate how to make breast screening accessible and can be used to inform health policy and quality improvement practices.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

How do people with intellectual disabilities understand friendship? A systematic meta-synthesis.

BACKGROUND: Previous systematic reviews of the relationships of people with intellectual disabilities have included consideration of intimate relationships. In this paper, we report a systematic review of papers describing friendship only. METHOD: A systematic qualitative meta-synthesis of the research exploring experiences of friendship as reported by people with intellectual disabilities. RESULTS: Seven papers met the inclusion criteria for analysis. Three superordinate themes were identified. (1) Reciprocity, 'Someone who helps me, and I help them'. (2) The building blocks of friendships, 'I can tell her some secrets'. (3) Managing friendship difficulties, 'In real life it's much harder'. CONCLUSION: People with intellectual disabilities value friendship and actively engage in reciprocal exchanges. We explore the strengths and limitations of current research, clinical implications, and directions for future research.

Association between exposure to antibiotics during pregnancy or early infancy and risk of autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children: population based cohort study.

OBJECTIVE: To evaluate the association between antibiotic use during pregnancy or early infancy and the risk of neurodevelopmental disorders in children. DESIGN: Nationwide population based cohort study and sibling analysis. SETTING: Korea's National Health Insurance Service mother-child linked database, 2008-21. PARTICIPANTS: All children live born between 2009 and 2020, followed up until 2021 to compare those with and without antibiotic exposure during pregnancy or early infancy (first six months of life). MAIN OUTCOMES MEASURES: Autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children. After 1:1 propensity score matching based on many potential confounders, hazard ratios with 95% confidence interval were estimated using Cox proportional hazard models. A sibling analysis additionally accounted for unmeasured familial factors. RESULTS: After propensity score matching, 1 961 744 children were identified for the pregnancy analysis and 1 609 774 children were identified for the early infancy analysis. Although antibiotic exposure during pregnancy was associated with increased risks of all four neurodevelopmental disorders in the overall cohort, these estimates were attenuated towards the null in the sibling analyses (hazard ratio for autism spectrum disorder 1.06, 95% confidence interval 1.01 to 1.12; intellectual disorder 1.00, 0.93 to 1.07; language disorder 1.05, 1.02 to 1.09; and epilepsy 1.03, 0.98 to 1.08). Likewise, no association was observed between antibiotic exposure during early infancy and autism spectrum disorder (hazard ratio 1.00, 0.96 to 1.03), intellectual disorder (1.07, 0.98 to 1.15), and language disorder (1.04, 1.00 to 1.08) in the sibling analyses; however, a small increased risk of epilepsy was observed (1.13, 1.09 to 1.18). The results generally remained consistent across several subgroup and sensitivity analyses, except for slightly elevated risks observed among children who used antibiotics during very early life and those who used antibiotics for more than 15 days. CONCLUSIONS: In this large cohort study, antibiotic exposure during pregnancy or early infancy was not associated with an increased risk of autism spectrum disorder, intellectual disorder, or language disorder in children. However, elevated risks were observed in several subgroups such as children using antibiotics during very early life and those with long term antibiotic use, which warrants attention and further investigation. Moreover, antibiotic use during infancy was modestly associated with epilepsy, even after control for indications and familial factors. When prescribing antibiotics to pregnant women and infants, clinicians should carefully balance the benefits of use against potential risks.

Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.

BACKGROUND: Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial. METHODS: This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy. RESULTS: Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified. CONCLUSION: This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.

Experiences of verbal violence among people with intellectual disabilities in Israel.

BACKGROUND: This study examines the extent of exposure to verbal violence experienced by people with intellectual disabilities and whether it differs based on their housing situation: living in the community, with family, or in a residential facility. METHOD: One hundred and eighty-nine people with intellectual disabilities were interviewed about their experience with verbal violence. RESULTS: Eighty-six percent reported experiencing verbal violence in their lifetime and approximately 77% experienced it the past week. Participants were most likely to be yelled at, and friends were the most common perpetrators. While there were few differences by setting, people living with their families were more likely to be laughed at and marginally more likely to experience rude comments. CONCLUSIONS: Verbal violence is prevalent in the lives of people with intellectual disabilities in Israel. Interventions are necessary to assist people with intellectual disabilities to deal with such incidents, with possible additional supports needed for those living with family.

Measurement tools for behaviours that challenge and behavioural function in people with intellectual disability: A systematic review and meta-analysis of internal consistency, inter-rater reliability, and test-retest reliability.

Behaviours that challenge (BtC) are common in people with intellectual disability (ID) and associated with negative long-term outcomes. Reliable characterisation of BtC and behavioural function is integral to person-centred interventions. This systematic review and meta-analytic study quantitatively synthesised the evidence-base for the internal consistency, inter-rater reliability, and test-retest reliability of measures of BtC and behavioural function in people with ID (PROSPERO: CRD42021239042). Web of Science, Embase, PsycINFO and MEDLINE were searched from inception to March 2024. Retrieved records (n = 3691) were screened independently to identify studies assessing eligible measurement properties in people with ID. Data extracted from 83 studies, across 29 measures, were synthesised in a series of random-effects meta-analyses. Subgroup analyses assessed the influence of methodological quality and study-level characteristics on pooled estimates. COSMIN criteria were used to evaluate the measurement properties of each measure. Pooled estimates ranged across measures: internal consistency (0.41-0.97), inter-rater reliability (0.29-0.93) and test-retest reliability (0.52-0.98). The quantity and quality of evidence varied substantially across measures; evidence was frequently unavailable or limited to a single study. Based on current evidence, candidate measures with the most evidence for internal consistency and reliability are discussed; however, continued assessment of measurement properties in ID populations is a key priority.

A complex systems perspective on chronic aggression and self-injury: case study of a woman with mild intellectual disability and borderline personality disorder.

BACKGROUND: Challenging behaviors like aggression and self-injury are dangerous for clients and staff in residential care. These behaviors are not well understood and therefore often labeled as "complex". Yet it remains vague what this supposed complexity entails at the individual level. This case-study used a three-step mixed-methods analytical strategy, inspired by complex systems theory. First, we construed a holistic summary of relevant factors in her daily life. Second, we described her challenging behavioral trajectory by identifying stable phases. Third, instability and extraordinary events in her environment were evaluated as potential change-inducing mechanisms between different phases. CASE PRESENTATION: A woman, living at a residential facility, diagnosed with mild intellectual disability and borderline personality disorder, who shows a chronic pattern of aggressive and self-injurious incidents. She used ecological momentary assessments to self-rate challenging behaviors daily for 560 days. CONCLUSIONS: A qualitative summary of caretaker records revealed many internal and environmental factors relevant to her daily life. Her clinician narrowed these down to 11 staff hypothesized risk- and protective factors, such as reliving trauma, experiencing pain, receiving medical care or compliments. Coercive measures increased the chance of challenging behavior the day after and psychological therapy sessions decreased the chance of self-injury the day after. The majority of contemporaneous and lagged associations between these 11 factors and self-reported challenging behaviors were non-significant, indicating that challenging behaviors are not governed by mono-causal if-then relations, speaking to its complex nature. Despite this complexity there were patterns in the temporal ordering of incidents. Aggression and self-injury occurred on respectively 13% and 50% of the 560 days. On this timeline 11 distinct stable phases were identified that alternated between four unique states: high levels of aggression and self-injury, average aggression and self-injury, low aggression and self-injury, and low aggression with high self-injury. Eight out of ten transitions between phases were triggered by extraordinary events in her environment, or preceded by increased fluctuations in her self-ratings, or a combination of these two. Desirable patterns emerged more often and were less easily malleable, indicating that when she experiences bad times, keeping in mind that better times lie ahead is hopeful and realistic.

Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.

OBJECTIVE: This study aims to report a severe phenotype of Arboleda-Tham syndrome in a 20-month-old girl, characterized by global developmental delay, distinct facial features, intellectual disability. Arboleda-Tham syndrome is known for its wide phenotypic spectrum and is associated with truncating variants in the KAT6A gene. METHODS: To diagnose this case, a combination of clinical phenotype assessment and whole-exome sequencing technology was employed. The genetic analysis involved whole-exome sequencing, followed by confirmation of the identified variant through Sanger sequencing. RESULTS: The whole-exome sequencing revealed a novel de novo frameshift mutation c.3048del (p.Leu1017Serfs*17) in the KAT6A gene, which is classified as likely pathogenic. This mutation was not found in the ClinVar and HGMD databases and was not present in her parents. The mutation leads to protein truncation or activation of nonsense-mediated mRNA degradation. The mutation is located within exon 16, potentially leading to protein truncation or activation of nonsense-mediated mRNA degradation. Protein modeling suggested that the de novo KAT6A mutation might alter hydrogen bonding and reduce protein stability, potentially damaging the protein structure and function. CONCLUSION: This study expands the understanding of the genetic basis of Arboleda-Tham syndrome, highlighting the importance of whole-exome sequencing in diagnosing cases with varied clinical presentations. The discovery of the novel KAT6A mutation adds to the spectrum of known pathogenic variants and underscores the significance of this gene in the syndrome's pathology.

Fathers' involvement in raising children with intellectual disabilities: Mothers' ratings of the contribution of their spouses.

BACKGROUND: Intellectual disability (ID) is a lifelong condition characterized by individuals' inability to perform cognitive tasks and participate in daily living activities. While parenting children with ID has been reported to be demanding, studies draw mainly on mothers. In contexts such as the United Arab Emirates (UAE), there is little literature on fathers' involvement in raising children with IDs. OBJECTIVES: The purpose of this study was to explore, from the perspectives of mothers, the extent of fathers' involvement in raising children with ID in the UAE. METHODS: One hundred and fifty-eight (N = 158) mothers with children with ID completed the fathers' involvement in disability and rehabilitation scale. Mothers who had enrolled their children with ID in special schools or receiving services at rehabilitation centres were invited to participate in this study. The data were subjected to the following analyses: mean computation, multivariate analysis of variance, hierarchical regression, and moderation analysis. RESULTS: The results showed high fatherly support, participation in training, and contribution to the development of their children with ID. However, the mothers' ratings showed the fathers' ambivalence toward parenting children with ID. A relationship was found between attitude and support, as well as marital status and the educational level of mothers, providing insight into the involvement of fathers. CONCLUSION: The study recommends training programs aimed at improving the attitudes of fathers toward raising children with ID and other study implications.